hrp0095p2-183 | Growth and Syndromes | ESPE2022

First Korean case of a novel ZC4H2 mutation in Wieacker-Wolff syndrome with recurrent hypoglycemia

Lee Gahyun , Kim Heung , Yun Park So , Lee Donghyun , Kang Seokjin

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...